Mutagenetix > Incidental Mutation

Incidental Mutation 'R5519:2510009E07Rik'

431478

Institutional Source

Beutler Lab

Gene Symbol

2510009E07Rik

Ensembl Gene

ENSMUSG00000043391

Gene Name

RIKEN cDNA 2510009E07 gene

Synonyms

MMRRC Submission

043078-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5519 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

21467795-21513415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21472218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 91 (S91P)

Ref Sequence

ENSEMBL: ENSMUSP00000156099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053336] [ENSMUST00000232164]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053336
AA Change: S161P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000062303
Gene: ENSMUSG00000043391
AA Change: S161P

Domain	Start	End	E-Value	Type
Pfam:UPF0524	12	248	1e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232164
AA Change: S91P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 94.7%
20x: 88.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067K01Rik	T	C	8: 84,729,621 (GRCm39)	V99A	possibly damaging	Het
2810021J22Rik	G	A	11: 58,770,923 (GRCm39)	S135N	probably benign	Het
A530084C06Rik	T	C	13: 31,742,702 (GRCm39)		probably benign	Het
Acadsb	T	C	7: 131,031,694 (GRCm39)	S177P	probably damaging	Het
Acp3	C	A	9: 104,168,687 (GRCm39)	G393W	probably damaging	Het
Axl	G	A	7: 25,478,087 (GRCm39)	A204V	possibly damaging	Het
Birc6	A	T	17: 74,887,173 (GRCm39)	M806L	probably benign	Het
Cacna1i	T	C	15: 80,255,700 (GRCm39)	L861P	probably damaging	Het
Cfap44	A	T	16: 44,224,451 (GRCm39)	D53V	probably damaging	Het
Col9a1	G	A	1: 24,269,335 (GRCm39)		probably null	Het
Ctf2	T	A	7: 127,318,463 (GRCm39)	I179L	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Emilin2	G	A	17: 71,559,930 (GRCm39)	P1016S	probably benign	Het
Gm12790	G	A	4: 101,824,888 (GRCm39)	P127S	probably benign	Het
Gsap	T	A	5: 21,494,857 (GRCm39)	V24E	probably damaging	Het
Ipp	T	C	4: 116,367,964 (GRCm39)	F66L	possibly damaging	Het
Jakmip3	T	C	7: 138,609,520 (GRCm39)	I208T	probably damaging	Het
Med30	G	T	15: 52,584,462 (GRCm39)	D127Y	probably damaging	Het
Mosmo	C	T	7: 120,329,733 (GRCm39)	P118L	probably benign	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or51a42	G	A	7: 103,708,504 (GRCm39)	Q102*	probably null	Het
Padi2	A	G	4: 140,676,533 (GRCm39)	D557G	probably damaging	Het
Pde11a	T	A	2: 75,906,299 (GRCm39)	K639N	probably damaging	Het
Pspc1	T	C	14: 57,009,413 (GRCm39)	I140M	probably benign	Het
Rundc3a	A	T	11: 102,292,857 (GRCm39)	I417F	probably benign	Het
Scn1a	T	A	2: 66,162,557 (GRCm39)	I230F	probably damaging	Het
Serpinb3b	A	G	1: 107,087,506 (GRCm39)	M1T	probably null	Het
Sin3a	T	C	9: 57,025,457 (GRCm39)		probably null	Het
St8sia1	T	C	6: 142,909,287 (GRCm39)	N70D	probably damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tpm2	T	G	4: 43,522,751 (GRCm39)	D55A	possibly damaging	Het
Trdv1	T	A	14: 54,119,405 (GRCm39)	M22K	probably benign	Het
Zc3h4	A	T	7: 16,169,157 (GRCm39)	T1089S	unknown	Het
Zfp518b	G	A	5: 38,831,441 (GRCm39)	T188M	probably damaging	Het
Zfp74	G	T	7: 29,634,559 (GRCm39)	A383D	probably damaging	Het

Other mutations in 2510009E07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:2510009E07Rik	APN	16	21,472,310 (GRCm39)	missense	probably damaging	1.00
R1624:2510009E07Rik	UTSW	16	21,472,496 (GRCm39)	missense	probably damaging	1.00
R1840:2510009E07Rik	UTSW	16	21,472,236 (GRCm39)	missense	probably benign
R1971:2510009E07Rik	UTSW	16	21,472,048 (GRCm39)	nonsense	probably null
R4740:2510009E07Rik	UTSW	16	21,513,146 (GRCm39)	missense	probably benign	0.01
R5493:2510009E07Rik	UTSW	16	21,471,993 (GRCm39)	missense	possibly damaging	0.94
R7191:2510009E07Rik	UTSW	16	21,472,314 (GRCm39)	missense	probably benign	0.11
R7239:2510009E07Rik	UTSW	16	21,472,268 (GRCm39)	missense	probably damaging	0.97
R7487:2510009E07Rik	UTSW	16	21,472,479 (GRCm39)	missense	probably damaging	1.00
R7623:2510009E07Rik	UTSW	16	21,513,092 (GRCm39)	missense	probably damaging	0.99
R8904:2510009E07Rik	UTSW	16	21,472,148 (GRCm39)	frame shift	probably null
R8906:2510009E07Rik	UTSW	16	21,472,148 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTCCAGATCCGACTGCGATG -3'
(R):5'- TTGAAATTTGCGTCTGTCTTCCAG -3'

Sequencing Primer
(F):5'- AGCTGCTCTCAGGGCTGTAATC -3'
(R):5'- GTCTGTCTTCCAGCCTCCG -3'

Posted On

2016-10-05